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Camptodactyly Syndrome Guadalajara Type 1

FTSS


Presentation

  • If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms.[dovemed.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background.[books.google.com]
  • […] in infancy and affects males and females equally • Most common form Stretching/splinting Type II • Same clinical features as Type I, presents in adolescence • Affects girls more often than boys From abnormal lumbrical insertion, abnormal FDS origin or[orthobullets.com]
Short Stature
  • Short stature and microcephaly, known to be common to both the variants, were also noted. Conclusions This child had overlapping features of both types of variants of the Guadalajara Syndrome.[ped-rheum.biomedcentral.com]
  • stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Spina bifida 0002414 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Underdeveloped supraorbital ridges Flattened bony protrusion above[rarediseases.info.nih.gov]
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible,[mendelian.co]
  • Stature Camptodactyly Syndrome, Guadalajara Type 1 Dwarfism/Short Stature Camptodactyly Syndrome, Guadalajara Type 2 Camptodactyly Taurinuria Camptodactyly Taurinuria Camptodactyly Vertebral Fusion Camptodactyly Vertebral Fusion Goodman Camptodactyly[catsclem.nl]
  • SOLE M.T Last advances in short stature diagnosis and treatment. Genetics. Presentation. Up to date knowledge on Alzheimer’s. Dementia Unit. Neurology Unit . Institut Universitari Dexeus. Barcelona, Spain. 23 May 1996.[lagenetica.info]
Narrow Chest
  • chest Low chest circumference Narrow shoulders [ more ] 0000774 Narrow face Decreased breadth of face Decreased width of face [ more ] 0000275 Narrow mouth Small mouth 0000160 Scapular winging Winged shoulder blade 0003691 Seizures Seizure 0001250 Short[rarediseases.info.nih.gov]
  • chest Narrow face Narrow mouth Scapular winging Seizures Short nose Short toe Spina bifida Toe syndactyly Underdeveloped supraorbital ridges Occasionally present symptoms in 5-29% of the cases: Blepharophimosis Highly arched eyebrow Long face Low-set[dovemed.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Spina bifida 0002414 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Underdeveloped supraorbital ridges Flattened bony protrusion above eyes 0009891 5%[rarediseases.info.nih.gov]
Downturned Corners of the Mouth
  • corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Global developmental delay 0001263 Hallux valgus Bunion 0001822 High palate Elevated palate Increased palatal[rarediseases.info.nih.gov]
Shortened Nose
  • nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Spina bifida 0002414 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Underdeveloped supraorbital ridges[rarediseases.info.nih.gov]
Low Nasal Root
  • nasal root [ more ] 0005280 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Global developmental delay 0001263 Hallux valgus Bunion 0001822 High palate[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714[rarediseases.info.nih.gov]

Treatment

  • , and in some cases, due to treatment also.[dovemed.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • "Camptodactyly Treatments". Boston Children's Hospital. 2013. Retrieved 2017-09-05. Goldfarb, Charles (27 March 2012). "Camptodactyly". Congenital Hand and Arm Differences. Retrieved 2017-09-05. External links [ edit ][en.wikipedia.org]
  • […] widespread developmental dysmorphology syndromes Classification •If full PIP extension can be achieved actively with MCP held in flexion, digit can be explored and abnormal tendon transferred to radial lateral band Benson Classification Type Characteristics Treatment[orthobullets.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Camptodactyly Syndrome, Guadalajara Type 1 is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe[dovemed.com]
  • The recommended chemotherapy is based on platin and taxanes for 6 cycles, except in Stage IA, IB and grade 1, which have a good prognosis. In advanced stages, primary cytoreduction is recommended as initial treatment.[science.gov]

Etiology

  • (Etiology) The gene mutations that cause Camptodactyly Syndrome, Guadalajara Type 1 are not known The disorder is inherited in an autosomal recessive manner Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two[dovemed.com]
  • Future research may show whether this etiological concept can be upheld at least for some cases of giant melanocytic nevi.[plasticsurgerykey.com]

Epidemiology

  • Summary Epidemiology To date only eight cases have been reported in the literature.[orpha.net]
  • Introduction Congenital digital flexion deformity that usually occurs in the PIP joint of the small finger Epidemiology prevalence less than 1% location u nilateral (33%) or bilateral (66%) if bilateral, can be symmetric or asymmetric Pathophysiology[orthobullets.com]
  • SOLE “Epidemiology of the defects of closure of neural tube”. Presentation. M.T. SOLE “Role of genetics in reproductive counselling and Prenatal diagnosis”. Presentation. M.T. SOLE “Epidemiology of sexual differentiation disorders. Intersexes”.[lagenetica.info]
  • PMID:11689700 Epidemiological study of hepatitis B and C in a municipality with rural characteristics: Cássia dos Coqueiros, State of Sà o Paulo, Brazil.[science.gov]
Sex distribution
Age distribution

Pathophysiology

  • Introduction Congenital digital flexion deformity that usually occurs in the PIP joint of the small finger Epidemiology prevalence less than 1% location u nilateral (33%) or bilateral (66%) if bilateral, can be symmetric or asymmetric Pathophysiology[orthobullets.com]

Prevention

  • The deployment of more policemen was the strategy most cited and strengthening the family unit was the most commented preventative measure.[science.gov]
  • Project: Research on deficiencies prevention. Main researcher: Dr María Luisa Martínez Frías Position: Participating group. Collaborator . Distinction-Awards Honorary Foreign Member of the Argentinean Society of Echography and Ultrasound.[lagenetica.info]

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